Structural and Computational BiologyBiomedical Genomics

Studying tumour genomes

Biomedical Genomics
Group Leader

ICREA Research Professor, UPF Assistant Professor, ERC Consolidator Grant

+34 93 40 39912
Joint appointment: Oncology

Our research is focused on the study of cancer from a genomics perspective. We are particularly interested in the identification of cancer driver mutations, genes and pathways across tumour types and in the study of their potential as therapeutic targets.

1. Understanding mutational processes

Tumour genomes contain thousands of mutations, which can be identified by Next- Generation Sequencing technologies. By studying the observed pattern of these somatic mutations across genomic regions, we are able to explore the basic cell mechanisms that produce them. The interplay between these mechanisms, such as internal and external insults that damage DNA, chromosomal replication, transcription, and DNA repair mechanisms, leads to mutational processes that give rise to heterogeneous patterns of somatic mutations across the genome.

We have detected, for instance interactions between the machineries of transcription regulation and nucleotide excision repair (NER). Specifically, we recently demonstrated that the binding of transcription factors to their binding sites hinder the efficiency of NER, resulting in the generation of a greater number of mutations in the transcription factor binding site than in neighbouring regions (

2. Finding the drivers of cancer

Cancer is mainly a genetic disease. It is caused by genomic alterations that confer somatic cells competitive advantages over neighbouring cells in the same tissue. The genes affected by these alterations are commonly referred to as cancer drivers because they drive the abnormal growth of malignant cells. Recently, important international initiatives have sequenced the exomes and genomes of thousands of tumours belonging to different types of cancer. One of the main goals of the colossal effort channelled into this endeavour is the identification of cancer driver genes and, more recently, also potential driver non-coding genomic elements, such as promoters, enhancers, and non-coding RNAs.

Given that genomic alterations in driver genomic elements are positively selected in the course of tumorigenesis, an effective approach to detect these elements is to find signals of positive selection in their mutational patterns. In recent years, as part of the aforementioned initiatives, we have built bioinformatics tools to identify genomic elements that bear signals of positive selection in their mutational patterns across cohorts of tumours. We call this suite of methods Oncodrives. Using a combination of some of these methods, and others on large pan-cancer cohorts of tumours, we produce comprehensive and reliable catalogues of cancer driver genes. This information is available online at

3. Contributing to precision medicine

Precision medicine—understood as the ability to prescribe anti-cancer drugs that specifically target driver alterations in a given tumour—as opposed to traditional chemotherapeutic approaches is an emerging paradigm in clinical and translational research in oncology. The possibility to associate the alterations observed in a patient’s tumour with suitable anti-cancer therapies relies heavily on our ability to accurately identify the alterations that drive the malignancy, as well as those that predict its sensitivity or resistance to drugs.

Our lab seeks to contribute to the advancement of precision medicine, in particular the interpretation of the genomic variants of tumours, thus facilitating the identification of therapeutic options for cancer patients. With this aim, we have developed an approach and several bioinformatics resources to accurately interpret alterations in human tumours. This approach is available at

Radhakrishnan Sabarinathan, Loris Mularoni, Jordi Deu-Pons, Abel Gonzalez-Perez, Nuria Lopez-Bigas
Nature 2016, 532, 264-267 (14 April 2016) doi:10.1038/nature17661
Carlota Rubio-Perez#, David Tamborero#, Michael P. Schroeder, Albert A. Antolin, Jordi Deu-Pons, Christian Perez-Llamas, Jordi Mestres, Abel Gonzalez-Perez#, Nuria Lopez-Bigas#
Cancer Cell 27 (2015), pp. 382-396
Gonzalez-Perez A, Perez-Llamas C, Deu-Pons J, Tamborero D, Schroeder MP, Jene-Sanz A, Santos A & Lopez-Bigas N
Nature Methods 2013; doi:10.1038/nmeth.2642

This group receives financial support from the following sources:



Group news & mentions

<p>In the picture, Núria López-Bigas and the team that published the study in Nature Genetics</p>
29 Nov 2017

La revista científica Nature Genetics ha dedicado un “News and Views” al último estudio de la investigadora ICREA Núria López-Bigas, publicado en noviembre.

12 Nov 2017

La Vanguardia, Europa Press y Biotech-Spain, así como el suplemento Innovadores de El Mundo, han dedicado un espacio al simposio ENABLE.

<p>Núria López-Bigas</p>
7 Nov 2017

Diversos medios, entre los cuales Diario Médico y Madri+d, se han hecho eco del estudio liderado por la investigadora ICREA Núria López-Bigas que demuestra que el mecanismo de reparación del ADN es

<p>In the picture, Núria López-Bigas and the team that published the study in Nature Genetics</p>
7 Nov 2017

La vigilancia y reparación de errores durante la replicación del ADN no es igual de intensa en todos los puntos del genoma humano.

Upcoming events

24 Ene
Aula Fèlix Serratosa, Parc Científic de Barcelona
Dr Travis Johnson, Lecturer, Head - Drosophila developmental biology group, Faculty of Science School of Biological Sciences, Australia
26 Ene
Aula Fèlix Serratosa, Parc Científic de Barcelona
Alejandra Bruna, PhD Associate Scientist Cancer Research UK Cambridge Institute University of Cambridge
31 Ene
Aula Fèlix Serratosa, Parc Científic de Barcelona
Marta Shahbazi, Postdoctoral Fellow Department of Physiology, Development and Neuroscience, University of Cambridge, UK